Associated Papers
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.
Canson DM et al.
Npj Genomic Medicine, 2025
Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.
Galante PAF et al.
Lancet Regional Health. Americas, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.
Xie J et al.
Bmc Cancer, 2023
Longitudinal profiling of circulating tumour DNA for tracking tumour dynamics in pancreatic cancer.
Sivapalan L et al.
Bmc Cancer, 2022
Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.
Thompson JC et al.
Jto Clinical and Research Reports, 2022
Focal p53 protein expression and lymphovascular invasion in primary prostate tumors predict metastatic progression.
Gesztes W et al.
Scientific Reports, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D et al.
Leukemia, 2021
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Fiala EM et al.
Nature Cancer, 2021
Targeted next-generation sequencing of matched localized and metastatic primary high-risk SCCs identifies driver and co-occurring mutations and novel therapeutic targets.
Lobl MB et al.
Journal of Dermatological Science, 2020
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
The correlations of tumor mutational burden among single-region tissue, multi-region tissues and blood in non-small cell lung cancer.
Zhang Y et al.
Journal for Immunotherapy of Cancer, 2019
Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia.
Herling CD et al.
Nature Communications, 2018
Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.
Yu J et al.
Gut, 2017
Mutational landscape reflects the biological continuum of plasma cell dyscrasias.
Rossi A et al.
Blood Cancer Journal, 2017
TP53 mutations induced by BPDE in Xpa-WT and Xpa-Null human TP53 knock-in (Hupki) mouse embryo fibroblasts.
Kucab JE et al.
Mutation Research, 2015
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G et al.
Nature Genetics, 2014
Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells.
Jagosova J et al.
International Journal of Oncology, 2012
Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library.
Shiraishi K et al.
The Journal of Biological Chemistry, 2004
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Nasrallah MP et al.
Academic Pathology, 0